Frequency of Skin Diseases in Children with Inborn Errors of Immunity

NCT06876337 | Not Yet Recruiting

• 1 other identifier: skin diseases in children IEM
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

1. 1.To detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital.
2. 2.To describe the pattern of dermatological manifestation among IEI patients present at Assiut University Children hospital.

Conditions

Skin Condition

Outcome Measures

Primary Outcomes (1)

• detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital

  To describe the pattern of dermatological manifestation among IEI patients present at Assiut University Children hospital

  from march 2025 to february 2026

Eligibility Criteria

• Age: 1 Day - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Age of patients below 18 years old. both sex,at the Allergy, Immunology, and Rheumatology Unit of Assiut University Children's Hospital

You may qualify if:

• Age of patients below 18 years old.
• Both sexes.
• Patients diagnosed with IEI according to the clinical and laboratory criteria outlined by the latest International Union of Immunological Societies (IUIS) classification or equivalent recognized diagnostic guidelines.

You may not qualify if:

• Patients older than 18 years Patients not fulfilling the criteria for diagnosis of IEI or still not diagnosed yet.

Sponsors & Collaborators

• Assiut University: lead

Study Sites (1)

Norhan Gamal

Asyut, Egypt

Location

Related Publications (11)

• Al-Herz W, Zainal M, Nanda A. A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years. Front Immunol. 2021 Sep 30;12:751469. doi: 10.3389/fimmu.2021.751469. eCollection 2021.

  PMID: 34659256 BACKGROUND

• Kang JM, Kim SK, Kim D, Choi SR, Lim YJ, Kim SK, Park BK, Park WS, Kang ES, Ko YH, Choe YH, Lee JW, Kim YJ. Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase delta Syndrome 1: the First Case Series in Korea. Yonsei Med J. 2020 Jun;61(6):542-546. doi: 10.3349/ymj.2020.61.6.542.

  PMID: 32469178 BACKGROUND

• Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015 Oct 29;1:15061. doi: 10.1038/nrdp.2015.61.

  PMID: 27189259 BACKGROUND

• Cagdas D, Ayasun R, Gulseren D, Sanal O, Tezcan I. Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective. J Allergy Clin Immunol Pract. 2023 Oct;11(10):3030-3039. doi: 10.1016/j.jaip.2023.06.037. Epub 2023 Jun 28.

  PMID: 37391021 BACKGROUND

• Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014 Apr;46(2):112-9. doi: 10.1007/s12016-013-8377-8.

  PMID: 23760761 BACKGROUND

• Allenspach E, Torgerson TR. Autoimmunity and Primary Immunodeficiency Disorders. J Clin Immunol. 2016 May;36 Suppl 1:57-67. doi: 10.1007/s10875-016-0294-1. Epub 2016 May 23.

  PMID: 27210535 BACKGROUND

• de Wit J, Brada RJK, van Veldhuizen J, Dalm VASH, Pasmans SGMA. Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data. Allergy. 2019 Mar;74(3):464-482. doi: 10.1111/all.13681. Epub 2018 Dec 27.

  PMID: 30480813 BACKGROUND

• Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, Arkwright PD. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011 May;127(5):810-6. doi: 10.1542/peds.2010-3680. Epub 2011 Apr 11.

  PMID: 21482601 BACKGROUND

• Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci. 2011 Nov;1238:7-14. doi: 10.1111/j.1749-6632.2011.06206.x.

  PMID: 22129048 BACKGROUND

• Kobrynski L, Powell RW, Bowen S. Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007. J Clin Immunol. 2014 Nov;34(8):954-61. doi: 10.1007/s10875-014-0102-8. Epub 2014 Sep 26.

  PMID: 25257253 BACKGROUND

• Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019 Apr 16;10:777. doi: 10.3389/fimmu.2019.00777. eCollection 2019.

  PMID: 31057537 BACKGROUND

MeSH Terms

Conditions

Skin Diseases

Condition Hierarchy (Ancestors)

Skin and Connective Tissue Diseases

Central Study Contacts

Norhan Gamal Norhan Gamal El Deen Mohamed, resident doctor

CONTACT

egypt 01098107860; norhangamal025@gmail.com

Naglaa Samy Naglaa Samy Mohammed Osman, associate professor

CONTACT

egypt 01002673103; Naglaaosman84@aun.edu.eg

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Lecturer

Study Record Dates

• First Submitted: March 8, 2025
• First Posted: March 14, 2025
• Study Start: April 1, 2025
• Primary Completion: March 1, 2026
• Study Completion: March 1, 2026
• Last Updated: March 14, 2025

Record last verified: 2025-03

Locations

EG (1)